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Top 5 genes

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Data summary

Publications : 1001
Phenotypes : 178
Genes : 207
Mutations : 4631
SNVs : 3422
InDels : 1209
Last Update : 22/02/2019

Detailed information for BBS4

Basic information

Official symbol	BBS4
Official full name	Bardet-Biedl syndrome 4
Location	15q22.3-q23
Gene type	protein-coding
Synonyms	-
Quick links	Entrez ID:585; HGNC:969; MIM:600374; Ensembl:ENSG00000140463; HPRD:08982; Vega:OTTHUMG00000133510

GO related

GO term accession	GO term name	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-Value
GO:0050953	sensory perception of light stimulus	205	100	2.55	39.21	8.72e-146	1.02e-142
GO:0007601	visual perception	204	99	2.54	39.01	7.39e-144	4.34e-141
GO:0007600	sensory perception	495	103	6.16	16.73	4.54e-105	1.78e-102
GO:0050877	neurological system process	1237	106	15.39	6.89	1.82e-66	5.34e-64
GO:0003008	system process	1695	108	21.09	5.12	1.12e-54	2.63e-52
GO:0045494	photoreceptor cell maintenance	25	22	0.31	70.74	7.36e-40	1.44e-37
GO:0043954	cellular component maintenance	38	22	0.47	46.54	6.20e-33	8.09e-31
GO:0007423	sensory organ development	436	48	5.42	8.85	3.27e-32	3.84e-30
GO:0001654	eye development	276	39	3.43	11.36	3.01e-30	2.94e-28
GO:0044707	single-multicellular organism process	5612	143	69.81	2.05	9.21e-29	7.72e-27
GO:0032501	multicellular organismal process	5644	143	70.21	2.04	1.83e-28	1.43e-26
GO:0046530	photoreceptor cell differentiation	41	20	0.51	39.21	5.82e-28	4.27e-26
GO:0042461	photoreceptor cell development	30	18	0.37	48.23	1.64e-27	1.13e-25
GO:0060271	cilium morphogenesis	97	25	1.21	20.72	2.04e-26	1.26e-24
GO:0042384	cilium assembly	75	21	0.93	22.51	3.56e-23	1.90e-21
GO:0001754	eye photoreceptor cell differentiation	34	16	0.42	37.83	3.06e-22	1.50e-20
GO:0048592	eye morphogenesis	126	24	1.57	15.31	5.38e-22	2.53e-20
GO:0042462	eye photoreceptor cell development	25	14	0.31	45.02	5.07e-21	2.29e-19
GO:0044699	single-organism process	7682	152	95.57	1.59	9.26e-19	3.88e-17
GO:0010927	cellular component assembly involved in morphogenesis	137	22	1.70	12.91	1.49e-18	6.03e-17
GO:0048646	anatomical structure formation involved in morphogenesis	1594	62	19.83	3.13	4.32e-17	1.64e-15
GO:0030031	cell projection assembly	204	24	2.54	9.46	6.34e-17	2.33e-15
GO:0009653	anatomical structure morphogenesis	2055	70	25.56	2.74	1.99e-16	7.08e-15
GO:0030030	cell projection organization	934	46	11.62	3.96	2.85e-16	9.84e-15
GO:0048856	anatomical structure development	4030	102	50.13	2.03	4.19e-16	1.33e-14
GO:0000902	cell morphogenesis	945	42	11.76	3.57	2.49e-13	7.69e-12
GO:0032502	developmental process	4572	104	56.88	1.83	3.53e-13	1.04e-11
GO:0005488	binding	11955	150	132.97	1.13	0.0005	0.0090
GO:0005515	protein binding	7337	102	81.61	1.25	0.0011	0.0149
GO:0005929	cilium	239	55	2.61	21.10	2.59e-58	5.08e-56
GO:0031513	nonmotile primary cilium	80	32	0.87	36.67	1.40e-42	1.37e-40
GO:0072372	primary cilium	96	33	1.05	31.52	2.93e-41	1.91e-39
GO:0044441	cilium part	110	29	1.20	24.17	1.90e-32	9.31e-31
GO:0042995	cell projection	1230	67	13.42	4.99	5.15e-30	2.02e-28
GO:0005932	microtubule basal body	66	20	0.72	27.78	5.27e-24	1.48e-22
GO:0044463	cell projection part	639	42	6.97	6.03	2.11e-21	5.17e-20
GO:0034464	BBSome	9	9	0.10	91.68	1.80e-18	3.92e-17
GO:0005815	microtubule organizing center	486	31	5.30	5.85	1.61e-15	2.87e-14
GO:0015630	microtubule cytoskeleton	863	37	9.41	3.93	5.76e-13	8.68e-12
GO:0060170	cilium membrane	25	8	0.27	29.34	1.59e-10	1.83e-09
GO:0005813	centrosome	376	22	4.10	5.36	1.49e-10	1.83e-09
GO:0044430	cytoskeletal part	1287	39	14.04	2.78	3.99e-09	3.91e-08
GO:0005856	cytoskeleton	1790	47	19.52	2.41	7.23e-09	6.16e-08
GO:0044450	microtubule organizing center part	94	9	1.03	8.78	8.63e-07	6.51e-06
GO:0005814	centriole	59	7	0.64	10.88	3.47e-06	2.52e-05
GO:0031253	cell projection membrane	187	11	2.04	5.39	6.65e-06	4.07e-05
GO:0044459	plasma membrane part	1918	41	20.92	1.96	1.68e-05	9.98e-05

Pathway related

Term	Surce	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value

PPI related

ID	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value
Hsapiens_Module_43	17	11	0.17	63.01	1.13e-18	5.88e-17

OMIM related

chromosome	begin	end	disorder MIM number	disorder	phene mapping key	gene/locus MIM number	cytogenetic loaction
chr15	72977519	73031817	209900	Bardet-Biedl syndrome 4	3	600374	15q24.1

MGI related

chromosome	begin	end	gene ID	gene symbol of mouse	MGI	MP	phenotype description
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0001186	pigmentation phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0002873	normal phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0003631	nervous system phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005367	renal/urinary system phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005370	liver/biliary system phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005375	adipose tissue phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005376	homeostasis/metabolism phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005377	hearing/vestibular/ear phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005378	growth/size phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005379	endocrine/exocrine gland phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005380	embryogenesis phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005381	digestive/alimentary phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005382	craniofacial phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005385	cardiovascular system phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005386	behavior/neurological phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005387	immune system phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005388	respiratory system phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005389	reproductive system phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005391	vision/eye phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0005394	taste/olfaction phenotype
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0010768	mortality/aging
chr15	72977519	73031817	585	Bbs4	MGI:2143311	MP:0010771	integument phenotype

Mutation spectrum

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Gene-disease network

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